Varaico: Literature-Extracted Genetic Variants

DENND5A

100 papers

RefSeq Summary

This gene encodes a DENN-domain-containing protein that functions as a RAB-activating guanine nucleotide exchange factor (GEF). This protein catalyzes the conversion of GDP to GTP and thereby converts...

Pfam Domains

uDENNaa 51–113UCSCuDENN domain

DENNaa 178–366UCSCDENN (AEX-3) domain

dDENNaa 531–583UCSCdDENN domain

RUNaa 771–921UCSCRUN domain

PLATaa 932–1038UCSCPLAT/LH2 domain

RUNaa 1118–1257UCSCRUN domain

Gene Aliases

HGNC Name

DENN domain containing 5A

HGNC Previous Symbol

RAB6IP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_015213.4

p.T1039N

c.3116C>A

Surrounding Variants

3 papers

NM_015213.4

p.R1032T

c.3095G>C

1 paper

NM_015213.4

p.V1031F

c.3091G>T

1 paper

NM_015213.4

p.N1017S

c.3050A>G

2 papers

NM_015213.4

p.K1007fs

c.3019_3020fs

2 papers

NM_015213.4

p.G1006insFs

c.3018dupG

2 papers

NM_015213.4

p.L1005M

c.3013T>A

1 paper

NM_015213.4

p.L1048F

c.3144A>T

1 paper

NM_015213.4

p.L1048F

c.3144A>C

1 paper

NM_015213.4

p.S969fs

c.2905_2906fs

1 paper

NM_015213.4

p.S969fs

c.2905_2906fs

1 paper

NM_015213.4

p.G968insFs

c.2903_2904insG

1 paper

NM_015213.4

p.R1059W

c.3175C>T